ACADM p.Ala50=
c.150T>A · rs1647165968 · VCV1556012
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
medium chain acyl-CoA dehydrogenase deficiency
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.022 | GERP -2.2, phastCons 0.88 |
| Overall | ||
| CADD | 9.478 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ACADM
- Protein
- p.Ala50=
- Coding
- c.150T>A
- MANE Select
- NM_000016
- dbSNP
- rs1647165968
- Type
- single nucleotide variant
- Location
- chr1:75732675 (GRCh38)
- Gene constraint
- LOEUF 1.072 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.15 · 7 PDB
- Residue 50
- an α-helix
Disease context
medium chain acyl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Medium chain acyl-CoA dehydrogenase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- ACADM c.118+1G>T Likely pathogenic ★★ same condition
- ACADM c.1194+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ACADM c.1194+2T>G Likely pathogenic ★★ same condition
- ACADM c.216+1G>A Pathogenic ★★ same condition
- ACADM c.216+1G>T Pathogenic/Likely pathogenic ★★ same condition
- ACADM c.216+2T>C Pathogenic ★★ same condition
- ACADM c.216+2T>G Pathogenic ★★ same condition
- ACADM c.217-1G>A Pathogenic/Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/acadm-p-ala50 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown